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https://www.readbyqxmd.com/read/28551381/a-specific-mutational-signature-associated-with-dna-8-oxoguanine-persistence-in-mutyh-defective-colorectal-cancer
#1
Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi, Emanuela Lucci-Cordisco, Tiziana Venesio, Aline Martayan, Maria Grazia Diodoro, Lupe Sanchez-Mete, Vittoria Stigliano, Filomena Mazzei, Francesca Grasso, Alessandro Giuliani, Marta Baiocchi, Roberta Maestro, Giuseppe Giannini, Marco Tartaglia, Ludmil B Alexandrov, Margherita Bignami
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated adenine. Biallelic MUTYH mutations impair this enzymatic function and are associated with colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals a modest mutator phenotype in MAP CRCs compared to sporadic CRC stem cell lines or bulk tumours...
April 13, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28533537/novel-mutations-and-phenotypic-associations-identified-through-apc-mutyh-nthl1-pold1-pole-gene-analysis-in-indian-familial-adenomatous-polyposis-cohort
#2
Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Colo-Rectal Cancer is a common cancer worldwide with 5-10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Caucasian population, FAP phenotype and its genotypic associations have not been widely studied in several geoethnic groups. We report the first FAP cohort from South Asia and the only non-Caucasian cohort with comprehensive analysis of APC, MUTYH, NTHL1, POLD1, POLE genes...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28503720/contribution-of-germline-mutations-in-cancer-predisposition-genes-to-tumor-etiology-in-young-women-diagnosed-with-invasive-breast-cancer
#3
Seth K Rummel, Leann Lovejoy, Craig D Shriver, Rachel E Ellsworth
PURPOSE: Although breast cancer in young women accounts for <10% of diagnoses annually, tumors in young patients exhibit more aggressive characteristics and higher mortality rates. Determination of the frequency of germline mutations in cancer predisposition genes is needed to improve the understanding of breast cancer etiology in young women. METHODS: All female patients enrolled in the Clinical Breast Cancer Project between 2001 and 2015 and diagnosed with invasive breast cancer before age 40 were included in this study...
May 13, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28502729/improving-mutation-screening-in-patients-with-colorectal-cancer-predisposition-using-next-generation-sequencing
#4
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa Aissaoui, Thierry Maudelonde, Sylviane Olschwang
Identification of genetic alterations is important for family risk assessment in colorectal cancers. Next-generation sequencing (NGS) technologies provide useful tools for single-nucleotide and copy number variation (CNV) identification in many genes and samples simultaneously. Herein, we present the validation of current Multiplicom MASTR designs of mismatch repair combined to familial adenomatous polyposis genes in a single PCR reamplification test for eight DNA samples simultaneously on a MiSeq apparatus...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#5
REVIEW
T T Rau, H Dawson, A Hartmann, J Rüschoff
The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28462913/a-clinicopathologic-evaluation-of-incidental-fundic-gland-polyps-with-dysplasia-implications-for-clinical-management
#6
Isaac E Lloyd, Wendy K Kohlmann, Keith Gligorich, Amy Hall, Elaine Lyon, Erinn Downs-Kelly, Wade S Samowitz, Mary P Bronner
OBJECTIVES: Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP...
May 2, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#7
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28445943/a-molecular-inversion-probe-based-next-generation-sequencing-panel-to-detect-germline-mutations-in-chinese-early-onset-colorectal-cancer-patients
#8
Junxiao Zhang, Xiaoyan Wang, Richarda M de Voer, Jayne Y Hehir-Kwa, Eveline J Kamping, Robbert D A Weren, Marcel Nelen, Alexander Hoischen, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge, Xiangling Yang, Zihuan Yang, Xinjuan Fan, Lei Wang, Huanliang Liu, Jianping Wang, Roland P Kuiper, Ad Geurts van Kessel
The currently known Mendelian colorectal cancer (CRC) predisposition syndromes account for ~5-10% of all CRC cases, and are caused by inherited germline mutations in single CRC predisposing genes. Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1. From a consecutive series of 2,371 Chinese CRC patients, 140 familial and non-familial cases were selected that were diagnosed with CRC at or below the age of 35 years...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28390865/spdef-induces-quiescence-of-colorectal-cancer-cells-by-changing-the-transcriptional-targets-of-%C3%AE-catenin
#9
Yuan-Hung Lo, Taeko K Noah, Min-Shan Chen, Winnie Zou, Ester Borras, Eduardo Vilar, Noah F Shroyer
BACKGROUND & AIMS: The canonical Wnt signaling pathway activates the transcriptional activity of β-catenin. This pathway is often activated in colorectal cancer cells, but strategies to block it in tumors have not been effective. The SAM pointed domain containing ETS transcription factor (SPDEF) suppresses formation of colon tumors by unclear mechanisms. We investigated these mechanisms and the effects of SPDEF on β-catenin activity in mouse models of colorectal cancer (CRC), CRC cell lines, and mouse and human normal and cancer colonoids...
April 5, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28331556/the-genetic-basis-of-colonic-adenomatous-polyposis-syndromes
#10
REVIEW
Bente A Talseth-Palmer
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diagnosis of FAP might molecularly show a different diagnosis...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#11
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28251689/germline-mutations-in-patients-with-multiple-colorectal-polyps-in-china
#12
Chen-Guang Li, Peng Jin, Lang Yang, Wan-Chun Zang, Qian Kang, Na Li, Yuqi He, Junfeng Xu, Chen Zhang, Xin Wang, Jian-Qiu Sheng
BACKGROUND AND AIM: Multiple colorectal polyps are relevant in hereditary colorectal cancer (CRC) syndromes, which are thought to be caused by multiple events including germline mutations. This study was aimed to characterize germline mutations in Chinese patients with multiple colorectal polyps. METHODS: Patients with >10 colorectal polyps at the Department of Gastroenterology of the PLA Army General Hospital were enrolled from January 2014 to December 2015...
March 2, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28242328/mitochondrial-transcription-factor-a-tfam-rs1937-and-ap-endonuclease-1-ape1-rs1130409-alleles-are-associated-with-reduced-cognitive-performance
#13
Meryl S Lillenes, Mari Støen, Clara-Cecilie Günther, Per Selnes, Vidar T V Stenset, Thomas Espeseth, Ivar Reinvang, Tormod Fladby, Tone Tønjum
Mitochondrial dysfunction and DNA damage is intimately connected to ageing and neurodegeneration, including Alzheimer's disease (AD). A particular culprit in this context is oxidative stress, which is a result of increased reactive oxygen species (ROS) due to hyperactive or dysfunctional mitochondria and/or reduced DNA repair capacity. Base excision repair (BER) is the major pathway for repairing oxidative damage events in chromosomal and mitochondrial DNA. Defects in BER have been detected in ageing and neurodegeneration...
February 24, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28199314/whole-genome-landscape-of-pancreatic-neuroendocrine-tumours
#14
Aldo Scarpa, David K Chang, Katia Nones, Vincenzo Corbo, Ann-Marie Patch, Peter Bailey, Rita T Lawlor, Amber L Johns, David K Miller, Andrea Mafficini, Borislav Rusev, Maria Scardoni, Davide Antonello, Stefano Barbi, Katarzyna O Sikora, Sara Cingarlini, Caterina Vicentini, Skye McKay, Michael C J Quinn, Timothy J C Bruxner, Angelika N Christ, Ivon Harliwong, Senel Idrisoglu, Suzanne McLean, Craig Nourse, Ehsan Nourbakhsh, Peter J Wilson, Matthew J Anderson, J Lynn Fink, Felicity Newell, Nick Waddell, Oliver Holmes, Stephen H Kazakoff, Conrad Leonard, Scott Wood, Qinying Xu, Shivashankar Hiriyur Nagaraj, Eliana Amato, Irene Dalai, Samantha Bersani, Ivana Cataldo, Angelo P Dei Tos, Paola Capelli, Maria Vittoria Davì, Luca Landoni, Anna Malpaga, Marco Miotto, Vicki L J Whitehall, Barbara A Leggett, Janelle L Harris, Jonathan Harris, Marc D Jones, Jeremy Humphris, Lorraine A Chantrill, Venessa Chin, Adnan M Nagrial, Marina Pajic, Christopher J Scarlett, Andreia Pinho, Ilse Rooman, Christopher Toon, Jianmin Wu, Mark Pinese, Mark Cowley, Andrew Barbour, Amanda Mawson, Emily S Humphrey, Emily K Colvin, Angela Chou, Jessica A Lovell, Nigel B Jamieson, Fraser Duthie, Marie-Claude Gingras, William E Fisher, Rebecca A Dagg, Loretta M S Lau, Michael Lee, Hilda A Pickett, Roger R Reddel, Jaswinder S Samra, James G Kench, Neil D Merrett, Krishna Epari, Nam Q Nguyen, Nikolajs Zeps, Massimo Falconi, Michele Simbolo, Giovanni Butturini, George Van Buren, Stefano Partelli, Matteo Fassan, Kum Kum Khanna, Anthony J Gill, David A Wheeler, Richard A Gibbs, Elizabeth A Musgrove, Claudio Bassi, Giampaolo Tortora, Paolo Pederzoli, John V Pearson, Nicola Waddell, Andrew V Biankin, Sean M Grimmond
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2...
March 2, 2017: Nature
https://www.readbyqxmd.com/read/28197815/choosing-not-to-undergo-predictive-genetic-testing-for-hereditary-colorectal-cancer-syndromes-expanding-our-understanding-of-decliners-and-declining
#15
Louise A Keogh, Heather Niven, Alison Rutstein, Louisa Flander, Clara Gaff, Mark Jenkins
While medical research continues to investigate the genetic basis of cancer, and personalised prevention gains momentum, little research has been conducted with the individuals who decline predictive genetic testing for cancer. We recruited individuals who had been offered genetic testing for Lynch syndrome or bi-allelic MUTYH mutations due to their participation in a large, population-based, Australia-wide colorectal cancer study. Thirty-three individuals in mutation-carrying families, unaffected by cancer, who had actively or passively declined testing at one of four decision-making points, took part in a qualitative interview about their decision...
February 14, 2017: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/28188963/high-risk-epithelial-ovarian-cancer-patients-for-hereditary-ovarian-cancer
#16
Seksit Chirasophon, Tarinee Manchana, Chinachote Teerapakpinyo
AIM: Risk assessment to identify patients at risk for hereditary ovarian cancer is important. The objectives of this study were to evaluate the frequency of high-risk epithelial ovarian cancer (EOC) patients and the frequency of germline mutation in these patients. METHODS: A total of 335 patients with histologically confirmed non-mucinous EOC were included. High-risk patients were defined as patients who had: (i) significant family history of breast/ovarian/colorectal/endometrial cancers; (ii) synchronous breast/endometrial/colorectal cancer; or (iii) high-grade serous carcinoma...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28173856/polymorphism-and-protein-expression-of-mutyh-gene-for-risk-of-rheumatoid-arthritis
#17
Shih-Yin Chen, Hsin-Han Chen, Yu-Chuen Huang, Shih-Ping Liu, Ying-Ju Lin, Sui-Foon Lo, Yuan-Yen Chang, Hui-Wen Lin, Chung-Ming Huang, Fuu-Jen Tsai
BACKGROUND: We have previously described the association between rheumatoid arthritis (RA) prevalence and the two mutY Homolog (E. coli) (MUTYH) SNPs (rs3219463 and rs3219476) among the Taiwanese population. This present study will aim to elucidate whether the SNPs can alter the expression of EGFR in the progression of RA. METHODS: The cohort study included 368 Taiwan's Han Chinese RA patients and 364 healthy controls. Blood samples collected from the participants were analyzed to determine their serum MUTYH levels and to identify rs3219463 SNP of MUTYH from their genomic DNA...
February 7, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28141798/oxidative-dna-damage-induces-hypomethylation-in-a-compromised-base-excision-repair-colorectal-tumourigenesis
#18
Daniela Furlan, Davide Trapani, Enrico Berrino, Carla Debernardi, Mara Panero, Laura Libera, Nora Sahnane, Cristina Riva, Maria Grazia Tibiletti, Fausto Sessa, Anna Sapino, Tiziana Venesio
BACKGROUND: A compromised base excision repair (BER) promotes carcinogenesis by accumulating oxidative DNA-damaged products as observed in MUTYH-associated polyposis, a hereditary colorectal cancer syndrome marked by adenomas and cancers with an accumulation of 8-oxoguanine. Remarkably, DNA global demethylation has been shown to be mediated by BER, suggesting a relevant interplay with early colorectal tumourigenesis. To check this hypothesis, we investigated a cohort of 49 adenomas and 10 carcinomas, derived from 17 MUTYH-associated polyposis patients; as adenoma controls, we used a set of 36 familial adenomatous polyposis and 24 sporadic polyps...
March 14, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28135145/cancer-susceptibility-gene-mutations-in-individuals-with-colorectal-cancer
#19
Matthew B Yurgelun, Matthew H Kulke, Charles S Fuchs, Brian A Allen, Hajime Uno, Jason L Hornick, Chinedu I Ukaegbu, Lauren K Brais, Philip G McNamara, Robert J Mayer, Deborah Schrag, Jeffrey A Meyerhardt, Kimmie Ng, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup, Sapna Syngal
Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-risk features (eg, early age at diagnosis, personal/family history of cancer or polyps, tumor microsatellite instability [MSI], mismatch repair [MMR] deficiency) is unknown. Patients and Methods We recruited 1,058 participants who received CRC care in a clinic-based setting without preselection for age at diagnosis, personal/family history, or MSI/MMR results...
April 1, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28130451/structural-basis-for-the-lesion-scanning-mechanism-of-the-muty-dna-glycosylase
#20
Lan Wang, Srinivas Chakravarthy, Gregory L Verdine
The highly mutagenic A:8-oxoguanine (oxoG) base pair is generated mainly by misreplication of the C:oxoG base pair, the oxidation product of the C:G base pair. The A:oxoG base pair is particularly insidious because neither base in it carries faithful information to direct the repair of the other. The bacterial MutY (MUTYH in humans) adenine DNA glycosylase is able to initiate the repair of A:oxoG by selectively cleaving the A base from the A:oxoG base pair. The difference between faithful repair and wreaking mutagenic havoc on the genome lies in the accurate discrimination between two structurally similar base pairs: A:oxoG and A:T...
March 24, 2017: Journal of Biological Chemistry
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